Detalhe da pesquisa
1.
Amiloride Reduces Urokinase/Plasminogen-Driven Intratubular Complement Activation in Glomerular Proteinuria.
J Am Soc Nephrol
; 35(4): 410-425, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254266
2.
A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.
Kidney Int
; 105(4): 744-758, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995908
3.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A
; 117(26): 15137-15147, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554502
4.
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
Am J Hum Genet
; 104(2): 348-355, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661770
5.
Neurological involvement in monogenic podocytopathies.
Pediatr Nephrol
; 36(11): 3571-3583, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791874
6.
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(10): e1007748, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365502
7.
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(5): e1007386, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768408
8.
Cathepsin B increases ENaC activity leading to hypertension early in nephrotic syndrome.
J Cell Mol Med
; 23(10): 6543-6553, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368174
9.
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.
J Biol Chem
; 293(11): 4122-4133, 2018 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29382718
10.
Abolishment of proximal tubule albumin endocytosis does not affect plasma albumin during nephrotic syndrome in mice.
Kidney Int
; 93(2): 335-342, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29032953
11.
C-terminal oligomerization of podocin mediates interallelic interactions.
Biochim Biophys Acta Mol Basis Dis
; 1864(7): 2448-2457, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29660491
12.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Am J Hum Genet
; 95(6): 637-48, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25466283
13.
Podocyte Purinergic P2X4 Channels Are Mechanotransducers That Mediate Cytoskeletal Disorganization.
J Am Soc Nephrol
; 27(3): 848-62, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26160898
14.
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
J Am Soc Nephrol
; 25(11): 2435-43, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24876116
15.
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Hum Mutat
; 35(2): 178-86, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24227627
16.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
N Engl J Med
; 365(25): 2377-88, 2011 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22187985
17.
Increased lysosomal proteolysis counteracts protein accumulation in the proximal tubule during focal segmental glomerulosclerosis.
Kidney Int
; 84(5): 902-10, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23760285
18.
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
Nat Genet
; 32(2): 300-5, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12244321
19.
[Neurological disorders and hereditary podocytopathies: Some fascinating pathophysiological overlaps]. / Atteinte neurologique et syndrome néphrotique cortico-résistant - Des chevauchements troublants.
Med Sci (Paris)
; 39(3): 246-252, 2023 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-36943121
20.
Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome.
Sci Transl Med
; 15(708): eabc8226, 2023 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37556557